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- NCIT_C75436 IAO_0000115 "Human UBE3A wild-type allele is located within 15q11-q13 and is approximately 102 kb in length. This allele, which encodes ubiquitin-protein ligase E3A, plays a role in protein turnover by targeting substrate proteins for degradation. Mutations in this gene are associated with Angelman syndrome." @default.
- NCIT_C75436 NCIT_NHC0 "C75436" @default.
- NCIT_C75436 NCIT_P100 "601623" @default.
- NCIT_C75436 NCIT_P102 "NM_000462" @default.
- NCIT_C75436 NCIT_P106 "Gene or Genome" @default.
- NCIT_C75436 NCIT_P108 "UBE3A wt Allele" @default.
- NCIT_C75436 NCIT_P207 "C2700100" @default.
- NCIT_C75436 NCIT_P321 "7337" @default.
- NCIT_C75436 NCIT_P366 "UBE3A_wt_Allele" @default.
- NCIT_C75436 NCIT_P98 "The inheritance of Angelman syndrome reveals the UBE3A locus is imprinted. Jiang (1998) generated transgenic mice with the maternal or paternal UBE3A genes knocked out and compared them with their wildtype (m+/p+) littermates. Mice with paternal deficiency (m+/p-) were essentially similar to wt mice. The phenotype of mice with maternal deficiency (m-/p+) resembles that of human AS with motor dysfunction, inducible seizures, and a context-dependent learning deficit. The absence of detectable expression of UBE3a in hippocampal neurons and Purkinje cells in m-/p+ mice, indicating imprinting with silencing of the paternal allele, correlated well with the neurologic and cognitive impairments. The cytoplasmic abundance of p53 was found to be greatly increased in Purkinje cells and in a subset of hippocampal neurons in m-/p+ mice, as well as in a deceased AS patient. Jiang suggested that failure of Ube3a to ubiquitinate target proteins and promote their degradation could be a key aspect of the pathogenesis of AS." @default.
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- NCIT_C75436 hasExactSynonym "ANCR" @default.
- NCIT_C75436 hasExactSynonym "AS" @default.
- NCIT_C75436 hasExactSynonym "E6-AP" @default.
- NCIT_C75436 hasExactSynonym "E6AP" @default.
- NCIT_C75436 hasExactSynonym "EPVE6AP" @default.
- NCIT_C75436 hasExactSynonym "FLJ26981" @default.
- NCIT_C75436 hasExactSynonym "HPVE6A" @default.
- NCIT_C75436 hasExactSynonym "UBE3A wt Allele" @default.
- NCIT_C75436 hasExactSynonym "Ubiquitin Protein Ligase E3A (Human Papilloma Virus E6-Associated Protein, Angelman Syndrome) wt Allele" @default.
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